NM_000827.4(GRIA1):c.1970C>A (p.Thr657Lys) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 5, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004393715.1

Allele description [Variation Report for NM_000827.4(GRIA1):c.1970C>A (p.Thr657Lys)]

NM_000827.4(GRIA1):c.1970C>A (p.Thr657Lys)

Gene:

GRIA1:glutamate ionotropic receptor AMPA type subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.2

Genomic location:

Preferred name:

NM_000827.4(GRIA1):c.1970C>A (p.Thr657Lys)

HGVS:

NC_000005.10:g.153764580C>A
NG_047078.1:g.279885C>A
NM_000827.4:c.1970C>AMANE SELECT
NM_001114183.2:c.1970C>A
NM_001258019.2:c.1730C>A
NM_001258020.2:c.1685C>A
NM_001258021.2:c.2000C>A
NM_001258022.2:c.2000C>A
NM_001258023.1:c.1763C>A
NM_001364165.2:c.1802C>A
NM_001364166.2:c.1997C>A
NM_001364167.2:c.1763C>A
NP_000818.2:p.Thr657Lys
NP_001107655.1:p.Thr657Lys
NP_001244948.1:p.Thr577Lys
NP_001244949.1:p.Thr562Lys
NP_001244950.1:p.Thr667Lys
NP_001244951.1:p.Thr667Lys
NP_001244952.1:p.Thr588Lys
NP_001351094.1:p.Thr601Lys
NP_001351095.1:p.Thr666Lys
NP_001351096.1:p.Thr588Lys
NC_000005.9:g.153144140C>A
NM_000827.3:c.1970C>A
NR_047578.2:n.2051C>A
NR_157093.2:n.2189C>A

Protein change:

T562K

Molecular consequence:

NM_000827.4:c.1970C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001114183.2:c.1970C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258019.2:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258020.2:c.1685C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258021.2:c.2000C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258022.2:c.2000C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258023.1:c.1763C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364165.2:c.1802C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364166.2:c.1997C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364167.2:c.1763C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_047578.2:n.2051C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157093.2:n.2189C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004878129	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 5, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004878129

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 5, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004878129.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1970C>A (p.T657K) alteration is located in exon 12 (coding exon 12) of the GRIA1 gene. This alteration results from a C to A substitution at nucleotide position 1970, causing the threonine (T) at amino acid position 657 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine